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VPS35 Gene

protein-coding   GIFtS: 63
GCID: GC16M046691

Vacuolar Protein Sorting 35 Homolog (S. Cerevisiae)

(Previous names: vacuolar protein sorting 35 (yeast homolog), vacuolar protein...)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Vacuolar Protein Sorting 35 Homolog (S. Cerevisiae)1 2     Vacuolar Protein Sorting 35 (Yeast Homolog)1
MEM32 3 5     Vacuolar Protein Sorting 35 (Yeast)1
Maternal-Embryonic 32 3     Vacuolar Protein Sorting-Associated Protein 352
hVPS352 3     Vesicle Protein Sorting 353
PARK172 5     

External Ids:    HGNC: 134871   Entrez Gene: 557372   Ensembl: ENSG000000693297   OMIM: 6015015   UniProtKB: Q96QK13   

Export aliases for VPS35 gene to outside databases

Previous GC identifers: GC16M037104 GC16M046634 GC16M046433 GC16M046475 GC16M046474 GC16M045251 GC16M032582


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for VPS35 Gene:
This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a
large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from
endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that
make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate
that this protein interacts directly with VPS35, which serves as the core of the retromer complex. (provided by
RefSeq, Jul 2008)

GeneCards Summary for VPS35 Gene:
VPS35 (vacuolar protein sorting 35 homolog (S. cerevisiae)) is a protein-coding gene. Diseases associated with VPS35 include vps35-related parkinson disease, and parkinson disease 17.

UniProtKB/Swiss-Prot: VPS35_HUMAN, Q96QK1
Function: Essential component of the retromer complex, a complex required to retrieve lysosomal enzyme receptors
(IGF2R and M6PR) from endosomes to the trans-Golgi network. Also required to regulate transcytosis of the
polymeric immunoglobulin receptor (pIgR-pIgA)

Gene Wiki entry for VPS35 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000016.10  NT_010498.16  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the VPS35 gene promoter:
         STAT1   STAT4   STAT1beta   STAT5A   Nkx2-5   Cdc5   STAT1alpha   FAC1   STAT2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVPS35 promoter sequence
   Search Chromatin IP Primers for VPS35

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat VPS35


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q12   Ensembl cytogenetic band:  16q11.2   HGNC cytogenetic band: 16q12

VPS35 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VPS35 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M046691:  view genomic region     (about GC identifiers)

Start:
46,690,054 bp from pter      End:
46,723,430 bp from pter
Size:
33,377 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: VPS35_HUMAN, Q96QK1 (See protein sequence)
Recommended Name: Vacuolar protein sorting-associated protein 35  
Size: 796 amino acids; 91707 Da
Subunit: Component of the retromer complex composed of VPS26 (VPS26A or VPS26B), VPS29, VPS35, SNX1 and SNX2.
Interacts directly with VPS26A and VPS26B. Found in a complex with XPO7, EIF4A1, ARHGAP1, VPS26A, VPS29, VPS35
and SFN. Interacts with GOLPH3
Sequence caution: Sequence=AAG01989.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAA91137.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB14626.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for VPS35:
2R17 (3D)    
Secondary accessions: Q561W2 Q9H016 Q9H096 Q9H4P3 Q9H8J0 Q9NRS7 Q9NVG2 Q9NX80 Q9NZK2

Explore the universe of human proteins at neXtProt for VPS35: NX_Q96QK1

Explore proteomics data for VPS35 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys24, Lys396
  • Modification sites at PhosphoSitePlus

  • See VPS35 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060676.2  
    ENSEMBL proteins: 
     ENSP00000299138   ENSP00000456274   ENSP00000461469   ENSP00000461423  
    Reactome Protein details: Q96QK1

    VPS35 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for VPS35
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    Novus Biologicals VPS35 Proteins
    Novus Biologicals VPS35 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for VPS35

    VPS35 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of VPS35
    Browse R&D Systems for Antibodies
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    Abcam antibodies for VPS35
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    ThermoFisher Antibody for VPS35
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    VPS35 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for VPS35
    Cloud-Clone Corp. CLIAs for VPS35


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PARK: Parkinson disease

    2 InterPro protein domains:
     IPR016024 ARM-type_fold
     IPR005378 Vps35

    Graphical View of Domain Structure for InterPro Entry Q96QK1

    ProtoNet protein and cluster: Q96QK1

    1 Blocks protein domain: IPB005378 Vacuolar protein sorting-associated protein 35

    UniProtKB/Swiss-Prot: VPS35_HUMAN, Q96QK1
    Similarity: Belongs to the VPS35 family


    VPS35 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VPS35_HUMAN, Q96QK1
    Function: Essential component of the retromer complex, a complex required to retrieve lysosomal enzyme receptors
    (IGF2R and M6PR) from endosomes to the trans-Golgi network. Also required to regulate transcytosis of the
    polymeric immunoglobulin receptor (pIgR-pIgA)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding IPI11102511
         
    VPS35 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for VPS35:
     Cell cycle / mitosis defect 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Vps35):
     behavior/neurological  mortality/aging  nervous system  normal  other 

    VPS35 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for VPS35
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for VPS35

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for VPS35
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for VPS35

    miRNA
    Products:
        
    miRTarBase miRNAs that target VPS35:
    hsa-mir-590-3p (MIRT016199), hsa-mir-24-3p (MIRT030421), hsa-mir-27a-3p (MIRT028711), hsa-mir-15b-5p (MIRT046485), hsa-mir-342-3p (MIRT043692)

    Block miRNA regulation of human, mouse, rat VPS35 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate VPS35 (see all 12):
    hsa-miR-569 hsa-miR-3688-3p hsa-miR-513a-3p hsa-miR-586 hsa-miR-488 hsa-miR-371-5p hsa-miR-3161 hsa-miR-633
    SwitchGear 3'UTR luciferase reporter plasmidVPS35 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for VPS35
    Predesigned siRNA for gene silencing in human, mouse, rat VPS35

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for VPS35

    Clone
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    OriGene clones in human, mouse for VPS35 (see all 6)
    OriGene ORF clones in mouse, rat for VPS35
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: VPS35 (NM_018206)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for VPS35
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VPS35

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for VPS35 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VPS35


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    VPS35_HUMAN, Q96QK1: Cytoplasm. Membrane; Peripheral membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    endosome4
    golgi apparatus2
    lysosome2
    nucleus2
    vacuole2
    cytoskeleton1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane IDA17897319
    GO:0005768endosome IDA--
    GO:0005829cytosol TAS--
    GO:0030904retromer complex IEA--
    GO:0043231intracellular membrane-bounded organelle ----

    VPS35 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for VPS35 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1beta-catenin independent WNT signaling
    Signaling by Wnt0.79
    2Signaling by GPCR
    Signal Transduction0.58
    3Wnt Pathway
    WNT ligand biogenesis and trafficking0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for VPS35
        WNT ligand biogenesis and trafficking



    VPS35 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for VPS35
    Interactions:

        GeneGlobe Interaction Network for VPS35

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for VPS35 (Q96QK12, 3 ENSP000002991384) via UniProtKB, MINT, STRING, and/or I2D (see all 151)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZNF512BQ96KM62, 3MINT-60836 I2D: score=2 
    HIST1H2BCP628073I2D: score=1 
    HIST1H2BEP628073I2D: score=1 
    HIST1H2BFP628073I2D: score=1 
    HIST1H2BGP628073I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008219cell death IEA--
    GO:0015031protein transport IEA--
    GO:0042147retrograde transport, endosome to Golgi NAS11102511

    VPS35 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for VPS35



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for VPS35 gene: 
    NM_018206.4  

    Unigene Cluster for VPS35:

    Vacuolar protein sorting 35 homolog (S. cerevisiae)
    Hs.454528  [show with all ESTs]
    Unigene Representative Sequence: AK025774
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000299138(uc002eef.4) ENST00000568784(uc002eed.3 uc002eee.3)
    ENST00000562420 ENST00000568642 ENST00000569950 ENST00000565228 ENST00000563884
    ENST00000568612 ENST00000561713 ENST00000568191 ENST00000563984

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat VPS35 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate VPS35 (see all 12):
    hsa-miR-569 hsa-miR-3688-3p hsa-miR-513a-3p hsa-miR-586 hsa-miR-488 hsa-miR-371-5p hsa-miR-3161 hsa-miR-633
    SwitchGear 3'UTR luciferase reporter plasmidVPS35 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for VPS35
    Predesigned siRNA for gene silencing in human, mouse, rat VPS35
    Clone
    Products:
         
    OriGene clones in human, mouse for VPS35 (see all 6)
    OriGene ORF clones in mouse, rat for VPS35
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: VPS35 (NM_018206)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for VPS35
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VPS35
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for VPS35
    OriGene qSTAR qPCR primer pairs in human, mouse for VPS35
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat VPS35
      QuantiTect SYBR Green Assays in human, mouse, rat VPS35
      QuantiFast Probe-based Assays in human, mouse, rat VPS35

    Additional mRNA sequence: 

    AF175265.1 AF183418.1 AF186382.1 AF191298.2 AK000395.1 AK001614.1 AK023650.1 AK025774.1 
    AK223218.1 AL136888.1 AL512769.1 AY007112.1 BC002414.2 BC010362.1 BC041367.2 BC093036.1 

    Selected DOTS entries (see all 33):

    DT.454462  DT.100881305  DT.95369874  DT.100881306  DT.100725496  DT.100881303  DT.100881298  DT.100881299 
    DT.211205  DT.95369860  DT.120665384  DT.120665392  DT.120665380  DT.120665354  DT.120665387  DT.95369869 
    DT.97860347  DT.101959592  DT.120665357  DT.120665389  DT.120665427  DT.100881297  DT.100881300  DT.100881308 

    621 AceView cDNA sequences (see top 24):

    BM450432 BU686147 BG319524 AI302924 BQ431694 BP378317 CR602924 BM833729 
    CR626386 CR618276 N51792 AI245882 BU623352 CN484592 BQ645934 AI692468 
    AA149212 CB216653 BM996006 BM991546 AA251150 BC002414 BE093063 BQ433648 
    AI989821 AW518217 BM928088 BP375035 AI524301 CB305481 AL041076 CB130812 
    BX422707 AI719670 CD244174 BQ435440 BP375284 BP341904 BM806626 AL043647 
    AA296476 CB134777 BM991555 BG255771 BM542572 AI866449 AW672736 BU621624 
    CD366481 BI335315 T33241 CA415579 BE909765 BP376844 BQ893715 AU121505 
    BQ921207 CB988432 BE326700 BQ929887 BE093066 CB112878 BM467705 BM541308 
    AA181323 CB321761 AI127129 CA420509 CD676147 BM707671 CA406886 BQ962909 
    BM468336 AU139834 T16413 AI654848 BM770213 NM_018206 BX379816 AL041719 
    AI206212 BQ437747 BM977321 AI620975 CB137461 AI961227 N36476 AL136888 
    AW160786 AI280716 AW052052 AF175265 BE466772 CN480613 CB131486 BM127523 
    AW516821 BM820386 AU120957 AU132465 BI962577 BG261298 BF795110 AI523470 
    AF183418 AW511973 Z40752 F10817 CB152433 AL512769 CB137428 CD723193 
    AA541333 CA444729 AK023650 BE646250 BI324933 CD558865 BU733209 AI571463 
    BM834551 AA082994 AI708274 BM830177 AA307735 W44915 BM750925 AW954231 
    W15519 AF191298 BG503515 BF979531 H60068 AI673351 AI185855 CD103561 
    BG171495 BP383260 BC041367 BQ574179 T08054 AA406165 BE875987 AA251519 
    CD643652 AI749275 AL524539 BE702110 AL048887 AI807207 BG703974 AI796852 
    AA620397 AW901909 AA403194 BG430749 BM854718 BQ645978 AW630317 BF701143 
    BP345764 BE538626 BX956853 BQ277468 BM835759 BU630665 AL041718 BX437996 
    BU145541 BI860869 BG114316 BM827983 CB987974 BM804442 BX647213 AV723740 
    CD300333 AU150040 AI289860 BE892474 BI093817 BQ217411 BU150899 CD512066 
    BM818063 BX405674 CB157030 BI460866 AI131444 CB131466 AF186382 AI637813 
    BG178442 BE073476 AW161618 AI050899 CA435922 BE702141 AW274921 BG178763 
    BF026058 AI289422 AI272822 BM921520 BG723314 AW901917 CB984865 BX376177 
    AW189264 BM147919 BI561291 BG575031 BU190343 BM477139 AI686865 BX330153 
    N30446 CA394572 BG714776 BG772101 BP366434 AL520061 BM709725 AV725193 
    BM806562 W56368 AU280518 AW628269 AA033599 BG392451 AW630928 AI917466 
    AL549426 BQ187885 BI457749 BI253392 BU533821 BP343648 N40972 T10104 
    BP340697 BM972389 N30125 BG828838 BX646182 BG826745 AU135687 BM047370 
    BM905260 BM194470 BG541981 AA031817 AI159966 CB132547 AA864578 BM801674 
    BM834102 BI090686 AI636656 AA831120 AY007112 BU569817 AI288516 CD686499 
    BM986986 BG492877 BP379448 T61967 CA392468 BP342601 BM476716 N42359 
    N93658 AU124131 BM543100 BF677643 AA360793 BG260872 AW408591 AA055303 
    BC010362 CB988002 W31591 AW007106 W32329 AI889248 AA031795 BU933025 
    CB147822 AW512970 BX377177 AW440447 AI168077 BM802770 BP355224 BQ225946 
    BI493456 AK000395 BF668100 N49248 AI288507 BM998239 BP376139 BQ220305 
    BG770288 CD653985 AL577565 CD102277 BX336338 BU182973 AW238853 BG402951 
    BU508813 BG024739 BM541872 AL554834 BM827349 BM542721 AI830546 BG953381 
    AK001614 N70561 BG024159 BE395179 T62705 BE886050 AA890482 CB987300 
    AI440100 BI771669 BG035942 AL043648 BM789533 BE897913 AA862892 N47691 
    BG502016 BP352500 CB162604 BG613850 N26528 BG715723 BE242252 AA633723 
    BP342313 BG423435 H28444 BU941579 AA039348 BM152761 AW135147 BG287432 
    AI590372 AA126464 AW003494 BQ939792 BQ898114 BU928132 W19227 AU156223 
    BQ217595 H39930 BE257385 BE787649 BM994100 W56579 AI131043 N51700 
    AV733084 BI600044 CD709195 AL580792 N35639 BM827042 BQ028391 BF380403 
    BG027938 AA916752 W24380 N56051 AA329330 AI493560 N40965 T36199 
    CF454899 BI092226 BM473103 CB984989 BE613721 BF105264 BE702249 AU147304 
    T61905 BG927480 AL565605 BG676344 BG476669 AA634345 Z45021 AW073425 
    BU430146 BG719009 AI032243 CA444785 BG336654 AU153985 AU252437 AU156622 
    BU678673 AU252436 AI474574 BM971213 BG620042 BF364128 BI089135 AI245315 
    BE877830 H97568 AW615058 BE616514 N29982 BG699257 AU151924 AU146882 
    BE166329 BQ216974 BI544999 AA744797 BG254048 AI263591 AF086051 AW581721 
    AA620415 AA299018 BU678580 BP364153 AW081564 AI459439 AA121016 CD629052 
    AA031816 R36929 AW023587 BM821895 BI458947 CD704874 BP378738 CD695423 
    R39843 BI460955 AA149211 BF665284 W05431 AA568447 AA600055 BG769280 
    BU564477 AA401204 BF669198 W02745 AL534646 BM749074 BF572420 F13217 
    AA976285 BP383377 AU152555 BE564637 BE543326 BE855712 CD688376 R14188 
    AW966869 AA055212 CD690734 AA435640 BF966258 CD690103 AL039920 R37791 
    BE466076 CD688624 T62855 BI562014 BM459629 BF311564 BI004038 BF672137 
    BE615639 AA083151 AW938384 BG716326 BQ356290 T57671 AA398872 H00125 
    BE262380 AU138790 AI866263 BE702018 AI692469 BF993715 H50806 AU155252 
    N86136 BI087581 BG925380 AA856703 H13593 R15057 BI460799 CA311543 
    BE546943 W93852 AA350109 H13224 CB049307 AA526893 AA714535 BE616327 
    BE958191 F13798 T57711 BQ359846 BF359828 BE870816 BQ067903 W25420 
    BE702244 AI869799 AU151321 BF325563 D31298 BG250413 N36319 BG705923 
    BM475104 BF355660 R86310 BE702103 BF896222 CD698293 AU153342 BP432755 
    AA179982 H50704 AI867852 BF325574 BF819158 BE789874 N83144 BE769316 
    AA852909 T91235 AI962017 CD707351 AA574268 BF680039 BE702185 BF359812 
    CK002409 T10105 BF377706 AW004674 R86309 BQ051084 BF361741 N35736 
    BU536036 R37470 BE084609 BF745498 BF325560 BX374816 CD676752 N47690 
    BG749678 BF987933 AI240253 AI351127 AU076848 AA888823 AA033600 BU173421 
    BF325573 BX400023 AA354850 AW088454 BF247277 BF029263 R41491 BG003662 
    BG913196 BF745421 BE789081 W24756 BF757803 BU854597 H59412 BI463143 
    BI094051 BQ312357 BI257053 AL559100 AL573730 AA702301 BE810784 BF325561 
    BE810775 BE810778 BE810783 BF743952 BE702143 BF677134 BE077363 T75430 
    AW151225 BG435890 AA083694 R13695 BQ318347 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for VPS35 (see all 14)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10a · 10b · 10c · 10d ^ 11 ^ 12 ^ 13 ^ 14 ^
    SP1:                          -                 -     -                 -     -                                                                                 
    SP2:                                            -     -                 -     -                                                                                 
    SP3:                                            -     -     -     -     -                                                                                       
    SP4:                          -           -     -     -     -           -     -                                                                                 
    SP5:              -     -     -                 -     -                 -     -                                                                                 

    ExUns: 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21
    SP1:                                                      
    SP2:                                                      
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for VPS35

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    VPS35 expression in normal human tissues (normalized intensities)      VPS35 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGTCCTCTG
    VPS35 Expression
    About this image


    VPS35 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Limb (Muscoskeletal System)
             Limb Bud
     
     Stomach (Gastrointestinal Tract)
    VPS35 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    VPS35 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.454528

    UniProtKB/Swiss-Prot: VPS35_HUMAN, Q96QK1
    Tissue specificity: Ubiquitous. Highly expressed in heart, brain, placenta, skeletal muscle, spleen, thymus,
    testis, ovary, small intestine, kidney and colon

        Custom PCR Arrays for VPS35
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VPS35

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for VPS35 gene from Selected species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vps351 , 5 vacuolar protein sorting 351, 5 91.46(n)1
    99.37(a)1
      8 (41.61 cM)5
    651141  NM_022997.41  NP_075373.11 
     852603925 
    chicken
    (Gallus gallus)
    Aves VPS351 vacuolar protein sorting 35 homolog (S. cerevisiae) 84.21(n)
    97.99(a)
      415750  NM_001005842.1  NP_001005842.1 
    lizard
    (Anolis carolinensis)
    Reptilia VPS356
    vacuolar protein sorting 35 homolog (S. cerevisiae...
    92(a)
    1 ↔ 1
    LGc(3597898-3632336)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.81442 Xenopus laevis transcribed sequence with strong similarity more 80.55(n)    CA988274.1 
    zebrafish
    (Danio rerio)
    Actinopterygii vps351 vacuolar protein sorting 35 (yeast) 76.76(n)
    93.97(a)
      561697  NM_001025517.2  NP_001020688.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG56253
    Vps351
    vesicle-mediated transport3
    Vacuolar protein sorting 351
    58(a)3
    60.03(n)1
    63.33(a)1
      58C73
    375361  NM_137807.31  NP_611651.41 
    worm
    (Caenorhabditis elegans)
    Secernentea vps-351 vps-35 55.04(n)
    49.94(a)
      174000  NM_062779.4  NP_495180.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VPS35(YJL154C)4
    VPS351
    Endosomal subunit of membrane-associated retromer complex more4
    VPS351
    52.12(n)1
    41.81(a)1
      10(133935-131101)4
    8532871, 4  NP_012381.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons VPS35B1 VPS35B 52.62(n)
    44.88(a)
      843918  NM_106235.4  NP_177713.3 
    rice
    (Oryza sativa)
    Liliopsida AK069591.12   -- 72.38(n)    AK069591.1 


    ENSEMBL Gene Tree for VPS35 (if available)
    TreeFam Gene Tree for VPS35 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for VPS35 gene
    1 SIMAP similar gene for VPS35 using alignment to 4 protein entries:     VPS35_HUMAN (see all proteins):
    DKFZp686O2462

    VPS35 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for VPS35
    PGOHUM00000249099


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for VPS35 (see all 554)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0666594
    Parkinson disease 17 (PARK17)4--see VAR_0666592 D N mis40--------
    rs1882869431,2
    C,Fpathogenic147706410(+) GGAATC/TGCTGA 2 N D mis13Minor allele frequency- T:0.00EU 5092
    rs1842770921,2
    Cunknown147712965(+) AATCCG/ACTGAT 2 /R /W mis13Minor allele frequency- A:0.00EU 5096
    rs1850986741,2
    C--32591716(+) TAAAGA/-AAAAA 1 -- int12Minor allele frequency- -:0.00EU 3754
    rs58165591,2
    C--32597653(+) GTGGTA/-ACTGA 1 -- int11Minor allele frequency- -:0.00NA 2
    rs3697560921,2
    C--46694101(+) GTTTT-/TTTGTTTT 2 -- ut310--------
    rs593708391,2
    C--46694124(+) TTTTT-/T/TT/ 
    TTT
    /TTTT
    ACAGA
    4 -- ut31 cds11NA 2
    rs582884361,2
    C--46712218(+) AAAAA-/AAAA  
      AAAAAA
    GCAAA
    1 -- int11Minor allele frequency- AAAAAAAAAA:0.00NA 2
    rs30405551,2
    C--46714944(+) CACAC-/A/AC/C
            
    TGTAT
    1 -- int11NA 2
    rs669448771,2
    C--46718147(+) GACCA-/ATCGAA 1 -- int10--------

    HapMap Linkage Disequilibrium report for VPS35 (46690054 - 46723430 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for VPS35:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv428327CNV Gain18775914
    nsv526656CNV Gain19592680

    Human Gene Mutation Database (HGMD): VPS35
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing VPS35
    DNA2.0 Custom Variant and Variant Library Synthesis for VPS35

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 601501   
    OMIM disorders: 614203  
    UniProtKB/Swiss-Prot: VPS35_HUMAN, Q96QK1
  • Parkinson disease 17 (PARK17) [MIM:614203]: An autosomal dominant, adult-onset form of Parkinson disease.
    Parkinson disease is a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular
    rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa.
    The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies
    (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 14 diseases for VPS35:    About MalaCards
    vps35-related parkinson disease    parkinson disease 17    parkinson's disease    parkinson disease 1
    tremor    schizophrenia    alzheimer's disease    hepatocellular carcinoma
    colorectal cancer    multiple myeloma    malaria    myeloma
    neuronitis    breast cancer

    1 disease from the University of Copenhagen DISEASES database for VPS35:
    Parkinson's disease

    VPS35 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Export disorders for VPS35 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for VPS35 gene, integrated from 10 sources (see all 95):
    (articles sorted by number of sources associating them with VPS35)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. VPS35 mutations in Parkinson disease. (PubMed id 21763482)1, 2, 3 Vilarino-Guell C.... Farrer M.J. (Am. J. Hum. Genet. 2011)
    2. Cloning and characterization of human VPS35 and mouse Vps35 and mapping of VPS35 to human chromosome 16q13-q21. (PubMed id 11112353)1, 2, 3 Zhang P.... Zhao S. (Genomics 2000)
    3. Human homologues of yeast vacuolar protein sorting 29 and 35. (PubMed id 11062004)1, 2, 9 Edgar A.J. and Polak J.M. (Biochem. Biophys. Res. Commun. 2000)
    4. Identification of VPS35 mutations replicated in French families with Parkinson disease. (PubMed id 22517097)1, 2 Lesage S.... Brice A. (Neurology 2012)
    5. A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. (PubMed id 21763483)1, 2 Zimprich A.... Strom T.M. (Am. J. Hum. Genet. 2011)
    6. GOLPH3 modulates mTOR signalling and rapamycin sensitivity in cancer. (PubMed id 19553991)1, 2 Scott K.L.... Chin L. (Nature 2009)
    7. Functional architecture of the retromer cargo-recognition complex. (PubMed id 17891154)1, 2 Hierro A.... Hurley J.H. (Nature 2007)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. Exportin 7 defines a novel general nuclear export pathway. (PubMed id 15282546)1, 2 Mingot J.-M.... Goerlich D. (EMBO J. 2004)
    10. The mammalian retromer regulates transcytosis of the polymeric immunoglobulin receptor. (PubMed id 15247922)1, 2 Verges M.... Mostov K.E. (Nat. Cell Biol. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 55737 HGNC: 13487 AceView: VPS35 Ensembl:ENSG00000069329 euGenes: HUgn55737
    ECgene: VPS35 H-InvDB: VPS35

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for VPS35 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for VPS35 gene:
    Search GeneIP for patents involving VPS35

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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